PSACH
MCID: PSD012
MIFTS: 67

Pseudoachondroplasia (PSACH) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Pseudoachondroplasia

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Pseudoachondroplasia is an inherited disorder of bone growth whichĀ is characterized by short stature.Ā other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. intelligence, facial features and head size are normal. pseudoachondroplasia is caused by mutations in the comp gene. this condition is inherited in an autosomal dominant pattern. last updated: 1/19/2011

MalaCards: Pseudoachondroplasia, also known as pseudoachondroplastic dysplasia, is related to multiple epiphyseal dysplasia and skeletal dysplasias, and has symptoms including short foot/brachydactyly of toes, abnormal gait and articular/joint pain/arthralgia. An important gene associated with Pseudoachondroplasia is COMP (cartilage oligomeric matrix protein), and among its related pathways are NCAM signaling for neurite out-growth and Protein digestion and absorption. The compounds pentosidine and dermatan have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are craniofacial and vision/eye.

Disease Ontology:9 An osteochondrodysplasia that has material basis in mutations in the comp gene which results in short limb dwarfism.

Genetics Home Reference:22 Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder.

Wikipedia:66 Pseudoachondroplasia is a type of short-limb dwarfism. It is a genetic autosomal dominant disorder. It... more...

Description from OMIM:48 177170

GeneReviews summary for psach

Aliases & Classifications for Pseudoachondroplasia

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9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

50
pseudoachondroplasia:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

pseudoachondroplasia 9 10 20 44 21 22 48 11 50 63
pseudoachondroplastic dysplasia 9 20 44 22 50
psach 20 44 22 46
pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 44 23 22
spondyloepiphyseal dysplasia, pseudoachondroplastic 9 44
pseudoachondroplastic spondyloepiphyseal dysplasia 44 50


External Ids:

Disease Ontology9 DOID:0080047
OMIM48 177170
ICD10 via Orphanet27 Q77.8
SNOMED-CT via Orphanet60 22567005
UMLS via Orphanet64 C0410538
MESH via Orphanet37 C535819

Related Diseases for Pseudoachondroplasia

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18GeneCards, 19GeneDecks
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Diseases related to Pseudoachondroplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1multiple epiphyseal dysplasia31.0ACAN, COMP, COL9A2, COL9A3, COL9A1, MATN3
2skeletal dysplasias30.6SLC26A2, COL2A1, COMP, ACAN
3achondroplasia30.5ACAN, COMP, COL2A1
4dwarfism30.3ACAN, COMP, COL2A1
5diastrophic dysplasia30.2COMP, COL9A2, COL2A1, COL9A3, MATN3, SLC26A2
6short stature30.0COMP, COL2A1, MATN3, CD36
7osteogenesis imperfecta29.9DCN, ADAMTSL1, COL2A1, CD36
8asphyxiating thoracic dystrophy10.4
9spondyloepiphyseal dysplasia congenita10.2
10cervicitis10.1
11achondrogenesis10.1SLC26A2
12relapsing polychondritis10.1MATN1
13spondyloepimetaphyseal dysplasia10.1COMP, MATN3
14metaphyseal dysplasia10.1COL2A1
15osteochondrodysplasia10.1SLC26A2, COMP
16lumbar disc disease10.1COL9A2, COL9A3
17campomelic dysplasia10.1COL9A2, COL2A1
18degenerative disc disease10.1COL9A3, COL9A2
19x-linked spondyloepiphyseal dysplasia tarda10.1COL2A1, ACAN
20clubfoot10.1SLC26A2, COL9A1
21stickler syndrome10.1COL9A2, COL2A1, COL9A1
22brachydactyly10.1COL2A1, COMP
23arthritis10.1ACAN, COL2A1
24myopia 610.1DCN, COL2A1, FMOD
25osteochondritis dissecans10.0ACAN, COL9A2, COL9A3, COL9A1
26synovitis10.0ACAN, COMP, COL2A1, MATN1
27multiple epiphyseal dysplasia, dominant10.0COMP, COL9A2, COL9A3, COL9A1, MATN3
28thrombotic thrombocytopenic purpura, acquired10.0THBS1, ADAMTSL1
29otosclerosis10.0SLC26A2, CD36
30achondrogenesis type ii10.0COL2A1, CD36
31arthropathy10.0DCN, ACAN, COMP, COL2A1
32collagen disease10.0CD36, COL2A1
33localized scleroderma10.0CD36, DCN
34marfan syndrome10.0DCN, CD36
35gingival overgrowth10.0CD36, DCN
36ehlers-danlos syndrome10.0DCN, COL2A1, CD36
37tendinopathy10.0
38cerebritis10.0
39asthma10.0
40myopathy10.0
41pseudoachondroplastic dysplasia 210.0
42systemic scleroderma10.0DCN, COMP, CD36
43osteoporosis10.0COL2A1, CD36, SLC26A2
44otomycosis10.0CALM1, CALM3, CALM2
45proliferative vitreoretinopathy10.0THBS1, ADAMTSL1
46malignant hyperthermia10.0CALM1, CALM3, CALM2
47pertussis10.0CALM2, CALM3, CALM1
48toxic encephalopathy10.0CALM1, CALM3, CALM2
49cerebral malaria10.0CD36, ADAMTSL1, THBS1
50plasmodium falciparum malaria10.0CD36, ADAMTSL1, THBS1

Graphical network of the top 20 diseases related to Pseudoachondroplasia:



Diseases related to pseudoachondroplasia

Symptoms for Pseudoachondroplasia

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

177170

Clinical features from OMIM:

177170

Symptoms:

50 (show all 24)
  • short foot/brachydactyly of toes
  • abnormal gait
  • articular/joint pain/arthralgia
  • osteoarthritis
  • restricted joint mobility/joint stiffness/ankylosis
  • hyperextensible joints/articular hyperlaxity
  • kyphosis
  • odontoid hypoplasia
  • genu valgum
  • genu varum
  • platyspondyly
  • scoliosis
  • lordosis
  • wrist/carpal anomalies
  • short hand/brachydactyly
  • metacarpal anomalies/archibald's sign
  • delayed bone age
  • metaphyseal anomaly
  • epiphyseal anomaly
  • bowed diaphysis/diaphyses/long bones
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • short limbs/micromelia/brachymelia

Drugs & Therapeutics for Pseudoachondroplasia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Pseudoachondroplasia

Drug clinical trials:

Search ClinicalTrials for Pseudoachondroplasia

Search NIH Clinical Center for Pseudoachondroplasia

Search CenterWatch for Pseudoachondroplasia

Genetic Tests for Pseudoachondroplasia

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21GeneTests, 23GTR
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Genetic tests related to Pseudoachondroplasia:

id Genetic test Affiliating Genes
1 Pseudoachondroplasia21 COMP
2 Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome23

Anatomical Context for Pseudoachondroplasia

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34MalaCards
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MalaCards organs/tissues related to Pseudoachondroplasia:

34
Bone

Animal Models for Pseudoachondroplasia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Pseudoachondroplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9SLC26A2, COL2A1, ACAN, DCN, HAPLN1
2MP:00053918.5THBS1, DCN, COL2A1, COL9A1, FMOD, CD36
3MP:00053698.3THBS1, DCN, ACAN, COMP, FMOD, CD36
4MP:00053717.5HAPLN1, THBS1, THBS3, ACAN, COMP, COL2A1
5MP:00053877.1ACAN, P4HB, DCN, THBS1, COMP, COL2A1
6MP:00053787.0DCN, THBS3, THBS1, HAPLN1, ACAN, COMP
7MP:00053906.4SLC26A2, HAPLN1, THBS1, THBS3, DCN, ACAN

Publications for Pseudoachondroplasia

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53PubMed
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Articles related to Pseudoachondroplasia:

(show top 50)    (show all 97)
idTitleAuthorsYear
1
Pseudoachondroplasia: a case report. (24364233)
2013
2
Chondrocyte-Specific Pathology During Skeletal Growth and Therapeutics in a Murine Model of Pseudoachondroplasia. (24194321)
2013
3
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. (22006726)
2012
4
Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia. (22154935)
2012
5
Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. (21644213)
2011
6
Difficult to control asthma in the patient with pseudoachondroplasia. (22675014)
2011
7
COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype. (21042783)
2010
8
Genetic analysis and serum level of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. (20819661)
2010
9
A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature. (20830670)
2010
10
Deformity correction with external fixator in pseudoachondroplasia. (16957646)
2007
11
Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP. (17588960)
2007
12
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family. (17579668)
2007
13
Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype. (16514635)
2006
14
Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion. (16928687)
2006
15
Retention of the matricellular protein SPARC in the endoplasmic reticulum of chondrocytes from patients with pseudoachondroplasia. (16286662)
2006
16
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. (15756302)
2005
17
Mesomelic dwarfism in pseudoachondroplasia. (15552564)
2004
18
Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP). (14580238)
2004
19
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. (12483304)
2003
20
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. (11968079)
2002
21
A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia. (11745002)
2002
22
Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia. (11746044)
2001
23
Selective intracellular retention of extracellular matrix proteins and chaperones associated with pseudoachondroplasia. (11691584)
2001
24
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. (11746045)
2001
25
Molecular diagnosis is important to confirm suspected pseudoachondroplasia. (10691412)
2000
26
Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. (10405447)
1999
27
Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)]. (9632164)
1998
28
Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. (9921895)
1998
29
Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein. (9452063)
1998
30
Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues. (9749943)
1998
31
Mosaicism in pseudoachondroplasia. (9188668)
1997
32
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (8702126)
1996
33
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12. (7490089)
1995
34
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. (7670472)
1995
35
Bone dysplasia in a child born to parents with osteogenesis imperfecta and pseudoachondroplasia. (8074142)
1994
36
A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix. (7907311)
1994
37
Linkage of typical pseudoachondroplasia to chromosome 19. (8307577)
1993
38
Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia. (1442879)
1992
39
Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia. (1670752)
1991
40
Pseudoachondroplasia with immune deficiency. (3263611)
1988
41
Severe pseudoachondroplasia with parental consanguinity. (3989835)
1985
42
Pseudoachondroplasia: biochemical and histochemical studies of cartilage. (6438109)
1984
43
Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. (6409926)
1983
44
The biochemical defect of pseudoachondroplasia. (7117284)
1982
45
Pathogenesis of pseudoachondroplasia and diastrophic dysplasia. (6298815)
1982
46
Pseudoachondroplasia, a report of 13 cases. (871597)
1977
47
Pseudoachondroplasia. (1201340)
1975
48
Gel electrophoretic studies on proteoglycans and collagen of abnormal human growth cartilage: proteoglycan abnormalities in pseudoachondroplasia and in Kniest's disease. (127160)
1975
49
Picture of the month. Pseudoachondroplasia (pseudoachondroplastic spondlyloepiphyseal dysplasia). (4440652)
1974
50
A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia. (4333078)
1972

Variations for Pseudoachondroplasia

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Pseudoachondroplasia:

65 (show all 30)
id Symbol AA change Variation ID SNP ID
1COMPp.Asp290AsnVAR_007614
2COMPp.Gly299ArgVAR_007615
3COMPp.Cys328ArgVAR_007616
4COMPp.Asp349ValVAR_007618
5COMPp.Cys387GlyVAR_007625
6COMPp.Gly440GluVAR_007628
7COMPp.Gly440ArgVAR_007629
8COMPp.Cys468TyrVAR_007632
9COMPp.Asp472TyrVAR_007634
10COMPp.Asp473GlyVAR_007635rs28936669
11COMPp.Asp482GlyVAR_007637
12COMPp.Asp518AsnVAR_007639
13COMPp.Thr585MetVAR_007641
14COMPp.Thr585ArgVAR_007642
15COMPp.Cys348ArgVAR_017102
16COMPp.Gly719AspVAR_017103
17COMPp.Pro234SerVAR_066790
18COMPp.Asp290GlyVAR_066791
19COMPp.Asp326TyrVAR_066796
20COMPp.Asp378ValVAR_066803
21COMPp.Cys387ArgVAR_066807
22COMPp.Asp446AsnVAR_066815
23COMPp.Cys448SerVAR_066816
24COMPp.Asp473HisVAR_066819
25COMPp.Asp475AsnVAR_066820
26COMPp.Asp507GlyVAR_066822
27COMPp.Asp511GlyVAR_066823
28COMPp.Asp515GlyVAR_066824
29COMPp.Thr529IleVAR_066825
30COMPp.Gly719SerVAR_066828

Clinvar genetic disease variations for Pseudoachondroplasia:

1 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1COMPCOMP, 3-BP DEL, (GAC)2deletionPathogenic
2COMPNM_000095.2(COMP): c.1417_1419delGAC (p.Asp473del)deletionPathogenicrs312262897GRCh37Chr 19, 18896845: 18896847
3COMPNM_000095.2(COMP): c.1586C> T (p.Thr529Ile)single nucleotide variantPathogenicrs312262903GRCh37Chr 19, 18896565: 18896565
4COMPNM_000095.2: c.1679A> Gsingle nucleotide variantPathogenic
5COMPNM_000095.2(COMP): c.1747G> A (p.Glu583Lys)single nucleotide variantPathogenicrs312262899GRCh37Chr 19, 18895873: 18895873
6COMPNM_000095.2(COMP): c.1754C> A (p.Thr585Lys)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
7COMPNM_000095.2(COMP): c.1754C> G (p.Thr585Arg)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
8COMPNM_000095.2(COMP): c.1754C> T (p.Thr585Met)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
9COMPNM_000095.2(COMP): c.1760A> G (p.His587Arg)single nucleotide variantPathogenicrs312262901GRCh37Chr 19, 18895860: 18895860
10COMPNM_000095.2(COMP): c.2155G> A (p.Gly719Ser)single nucleotide variantPathogenicrs312262904GRCh37Chr 19, 18893936: 18893936
11COMPNM_000095.2(COMP): c.1414G> T (p.Asp472Tyr)single nucleotide variantPathogenicrs137852650GRCh37Chr 19, 18896850: 18896850
12COMPNM_000095.2(COMP): c.1403G> A (p.Cys468Tyr)single nucleotide variantPathogenicrs137852651GRCh37Chr 19, 18896861: 18896861
13COMPCOMP, 3-BP DEL, 459TCA, SER459DELdeletionPathogenic
14COMPCOMP, 3-BP DEL, (GAC)4deletionPathogenic
15COMPNM_000095.2(COMP): c.982T> C (p.Cys328Arg)single nucleotide variantPathogenicrs137852653GRCh37Chr 19, 18898453: 18898453
16COMPNM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp)duplicationPathogenicrs312262898GRCh37Chr 19, 18896845: 18896859
17COMPNM_000095.2(COMP): c.2156G> A (p.Gly719Asp)single nucleotide variantPathogenicrs137852655GRCh37Chr 19, 18893935: 18893935
18COMPNM_000095.2(COMP): c.1042T> C (p.Cys348Arg)single nucleotide variantPathogenicrs137852656GRCh37Chr 19, 18898393: 18898393
19COMPCOMP, EX9DELdeletionPathogenic

Expression for genes affiliated with Pseudoachondroplasia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pseudoachondroplasia

Search GEO for disease gene expression data for Pseudoachondroplasia.

Pathways for genes affiliated with Pseudoachondroplasia

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Sources:
51PathCards, 56Reactome, 31KEGG, 13EMD Millipore, 39NCBI BioSystems Database, 54QIAGEN, 61Thomson Reuters, 55R&D Systems
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Pathways related to Pseudoachondroplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 83)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8COL9A2, COL9A3, COL9A1
29.6COL9A1, COL9A3, COL9A2, COL2A1
39.5CALM3, CALM1, CALM2
4
Show member pathways
Ras signaling in the CD4+ TCR pathway39
9.5CALM1, CALM3, CALM2
59.5CALM1, CALM3, CALM2
69.5CALM1, CALM3, CALM2
79.5CALM1, CALM2, CALM3
89.5CALM1, CALM3, CALM2
99.5CALM3, CALM1, CALM2
109.5CALM1, CALM3, CALM2
119.5CALM1, CALM3, CALM2
129.5CALM3, CALM1, CALM2
13
Show member pathways
9.5CALM3, CALM1, CALM2
149.5CALM1, CALM3, CALM2
15
Show member pathways
9.5CALM1, CALM3, CALM2
16
Show member pathways
IFN-gamma pathway39
9.5CALM1, CALM2, CALM3
179.5CALM1, CALM3, CALM2
189.5CALM2, CALM1, CALM3
19
Show member pathways
Development Activation of ERK by Alpha 1 adrenergic receptors61
9.5CALM2, CALM1, CALM3
20
Show member pathways
EPO Receptor Signaling39
EPO signaling pathway39
9.5CALM2, CALM3, CALM1
21
Show member pathways
9.5CALM2, CALM1, CALM3
22
Show member pathways
Calcium signaling in the CD4+ TCR pathway39
9.5CALM2, CALM3, CALM1
23
Show member pathways
IL2 signaling events mediated by STAT539
9.5CALM2, CALM3, CALM1
24
Show member pathways
D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis39
inositol pyrophosphates biosynthesis39
D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis39
9.5CALM2, CALM1, CALM3
25
Show member pathways
VEGFR1 specific signals39
9.5CALM3, CALM2, CALM1
269.5CALM3, CALM2, CALM1
279.5CALM2, CALM1, CALM3
28
Show member pathways
p38 MAPK signaling pathway39
9.5CALM2, CALM1, CALM3
299.5CALM2, CALM3, CALM1
30
Show member pathways
9.5CALM2, CALM3, CALM1
319.4THBS1, COMP, COL9A2, COL9A3, COL9A1
32
Show member pathways
Development EDNRB signaling61
Development ACM2 and ACM4 activation of ERK61
Cell adhesion Integrin inside out signaling61
Development G Proteins mediated regulation MARK ERK signaling61
Signal transduction IP3 signaling61
Development Angiotensin signaling via PYK261
Development EPO induced MAPK pathway61
9.3CALM2, COL2A1, CALM1, CALM3
33
Show member pathways
Signaling Pathways in Glioblastoma39
9.2CALM3, CALM2, CALM1, THBS1
349.2THBS3, COMP, CD36, THBS1
359.2COMP, THBS3, THBS1, CD36
369.0CALM1, CALM2, CALM3, ACAN, COL2A1
37
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
9.0CD36, COL2A1, THBS1, COMP, THBS3
38
Show member pathways
8.9CD36, THBS1, CALM1, CALM3, CALM2
39
Show member pathways
8.9CALM3, CALM2, CD36, CALM1, THBS1
40
Show member pathways
8.8COL9A1, COL9A3, COL2A1, COL9A2, P4HB
41
Show member pathways
8.6COL9A2, CALM3, COL2A1, COL9A3, COL9A1, CALM1
428.4HAPLN1, FMOD, COL2A1, COMP, DCN, ACAN
43
Show member pathways
8.2SLC26A2, CALM1, ACAN, CALM3, CALM2, FMOD
448.2DCN, CALM1, CALM3, CALM2, FMOD, SLC26A2
45
Show member pathways
8.2THBS3, THBS1, COL9A2, COL9A3, COL9A1, CALM1
46
Show member pathways
8.2CALM3, CALM2, CALM1, COL9A1, COL9A3, THBS3
47
Show member pathways
8.0CALM2, COL9A2, THBS1, COL2A1, COL9A3, CALM1
487.3DCN, HAPLN1, ACAN, COL9A1, MATN1, COL9A3
49
Show member pathways
7.1CALM3, DCN, P4HB, ACAN, CALM1, CALM2
50
Show member pathways
6.0P4HB, COL9A1, COL9A3, COL2A1, HAPLN1, COL9A2

Compounds for genes affiliated with Pseudoachondroplasia

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Sources:
46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB, 30IUPHAR
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Compounds related to Pseudoachondroplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1pentosidine4610.2ACAN, COMP, COL2A1
2dermatan46 2511.2ACAN, DCN
3safranin o4610.2CD36, ACAN
4polyglycolic acid4610.1CD36, ACAN
5pyridinoline4610.1COMP, COL2A1, CD36
6chitosan4610.1ACAN, CD36
7aminosugars4610.0THBS1, ADAMTSL1
8jararhagin4610.0MATN1, CD36
9sulfatide469.9THBS1, ADAMTSL1
10hydroxyapatite469.9THBS1, DCN, CD36
11epsilon aminocaproic acid469.8ADAMTSL1, THBS1
12chondroitin46 2510.8DCN, ACAN, FMOD
13grgds469.7CD36, ADAMTSL1, THBS1
14neurocan469.7HAPLN1, DCN, ACAN
15fucoidan469.7CD36, ADAMTSL1, THBS1
16titanium469.7DCN, ADAMTSL1, CD36
17dextran sulfate469.7CD36, ADAMTSL1, THBS1
18vitamin d469.5CD36, COL2A1, COMP, ACAN, THBS1
19dermatan sulfate469.5DCN, COMP, FMOD, CD36
20heparan sulfate46 2510.5ACAN, ADAMTSL1, DCN, THBS1
21glucosamine46 25 1211.5THBS1, ADAMTSL1, ACAN, CD36
22oligonucleotide469.2THBS1, DCN, ADAMTSL1, COMP, COL2A1
23sulfate46 2510.2DCN, ADAMTSL1, ACAN, COMP, COL2A1, SLC26A2
24cyanogen bromide469.2CD36, P4HB
25hydroxyproline46 25 1211.2CD36, COL2A1, P4HB, DCN
26alginate469.1DCN, ACAN, COMP, COL2A1, MATN1, CD36
27ascorbic acid46 2510.1CD36, COL2A1, ACAN, P4HB
28guanidine hydrochloride469.1P4HB, DCN, HAPLN1
29tgf beta1469.0THBS1, DCN, ADAMTSL1, ACAN, COMP, CD36
30methionine469.0THBS1, P4HB, ADAMTSL1, COMP
31aspartate468.9ADAMTSL1, COMP, COL2A1, DCN
32leucine468.9DCN, ADAMTSL1, ACAN, FMOD
33polysaccharide468.9ADAMTSL1, P4HB, DCN, THBS1
34agarose468.9THBS1, DCN, P4HB, ACAN, COMP, COL2A1
35lysine468.8DCN, P4HB, ADAMTSL1, COL2A1
36creatinine468.8DCN, P4HB, COMP, CD36
37dexamethasone46 52 30 1211.7THBS1, DCN, ADAMTSL1, ACAN, COL2A1, CD36
38cycloheximide468.6THBS1, P4HB, ADAMTSL1, COL2A1, CD36
39proline468.5FMOD, COMP, ACAN, ADAMTSL1, P4HB
40nitric oxide46 25 1210.5THBS1, DCN, P4HB, ACAN, COL2A1, MATN1
41oxygen46 259.5THBS1, DCN, P4HB, ADAMTSL1, COL2A1
42estrogen468.3CD36, ADAMTSL1, P4HB, DCN, THBS1
43keratan sulfate468.2HAPLN1, CD36, FMOD, COMP, ACAN, ADAMTSL1
44cysteine468.0THBS1, DCN, P4HB, ADAMTSL1, COMP, COL2A1
45chondroitin sulfate46 258.9CD36, FMOD, COMP, ACAN, ADAMTSL1, DCN
46hyaluronic acid46 258.9HAPLN1, THBS1, DCN, ADAMTSL1, ACAN, COMP
47retinoic acid46 258.5THBS1, DCN, P4HB, ADAMTSL1, ACAN, COMP
48glycosaminoglycan467.2CD36, FMOD, MATN1, COL2A1, COMP, ACAN
49calcium46 52 25 1210.1THBS1, THBS3, P4HB, ADAMTSL1, COMP, COL2A1
50procollagen467.0THBS1, DCN, P4HB, ADAMTSL1, ACAN, COMP

GO Terms for genes affiliated with Pseudoachondroplasia

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Sources:
17Gene Ontology
See all sources

Cellular components related to Pseudoachondroplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IXGO:0055949.8COL9A2, COL9A3, COL9A1
2Golgi lumenGO:0057969.4FMOD, ACAN, DCN
3lysosomal lumenGO:0432029.1DCN, ACAN, FMOD
4endoplasmic reticulum lumenGO:0057888.7COL9A1, COL9A3, COL2A1, COL9A2, P4HB
5extracellular matrixGO:0310128.4HAPLN1, THBS1, DCN, ACAN, COMP, FMOD
6proteinaceous extracellular matrixGO:0055787.8HAPLN1, ADAMTSL1, ACAN, COMP, MATN3, MATN1
7extracellular regionGO:0055765.4FMOD, HAPLN1, THBS1, THBS3, DCN, P4HB

Biological processes related to Pseudoachondroplasia according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of blood coagulationGO:0301949.9THBS1, CD36
2organ morphogenesisGO:0098879.9DCN, COL9A1, COMP
3tissue homeostasisGO:0018949.9COL2A1, COL9A1
4collagen catabolic processGO:0305749.8COL9A1, COL2A1, COL9A2, COL9A3
5keratan sulfate catabolic processGO:0423409.8ACAN, FMOD
6platelet degranulationGO:0025769.7THBS1, CD36, CALM3
7keratan sulfate biosynthetic processGO:0181469.7FMOD, ACAN
8growth plate cartilage developmentGO:0034179.7THBS3, THBS1, COMP, COL9A1
9skeletal system developmentGO:0015019.7COL2A1, COL9A2, COMP, ACAN, MATN3
10axon guidanceGO:0074119.6COL9A1, COL2A1, COL9A2, COL9A3
11positive regulation of reactive oxygen species metabolic processGO:20003799.5CD36, THBS1
12glycosaminoglycan metabolic processGO:0302039.5DCN, ACAN, FMOD, SLC26A2
13extracellular matrix disassemblyGO:0226179.3DCN, ACAN, COL9A1, COL9A3, COL2A1, COL9A2
14carbohydrate metabolic processGO:0059759.2DCN, CALM3, ACAN, SLC26A2, FMOD
15cell adhesionGO:0071559.0COMP, ACAN, THBS1, HAPLN1, CD36
16small molecule metabolic processGO:0442817.9SLC26A2, P4HB, CD36, FMOD, CALM3, ACAN
17extracellular matrix organizationGO:0301986.3HAPLN1, THBS1, P4HB, ACAN, COMP, COL9A2

Molecular functions related to Pseudoachondroplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta bindingGO:0504319.8THBS1, CD36
2low-density lipoprotein particle bindingGO:0301699.7THBS1, CD36
3extracellular matrix structural constituent conferring tensile strengthGO:0300209.7COL9A1, COL9A3, COL2A1, COL9A2
4hyaluronic acid bindingGO:0055409.6ACAN, HAPLN1
5extracellular matrix structural constituentGO:0052019.5ACAN, COMP, MATN3, MATN1
6heparin bindingGO:0082019.3COMP, THBS3, THBS1

Products for genes affiliated with Pseudoachondroplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pseudoachondroplasia

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet